ReviewGenes2020
Genetics and Genomics of Pediatric Pulmonary Arterial Hypertension.
Review in Genes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
22 citing papers in PubMed, 38 citations in OpenAlex.
- Variant Class-Specific Phenotypes and Outcomes in Pediatric TBX4-Associated Pulmonary Hypertension.Pediatric pulmonology · 2026Article
- Non-HLA Antibody-Associated Hyperacute Allograft Rejection Following Lung Transplantation.Pediatric transplantation · 2026Article
- The New Era of Pulmonary Hypertension: The Dawn of Disease Modification & Therapeutic Modalities.Journal of cardiovascular development and disease · 2026Review
- Precision Medicine for Pulmonary Vascular Disease: The Future Is Now (2023 Grover Conference Series).Pulmonary circulation · 2025Article
- Embracing the challenges of neonatal and paediatric pulmonary hypertension.The European respiratory journal · 2024Review
- Early Pulmonary Hypertension in Preterm Infants.Clinics in perinatology · 2024Review
- Molecular Function and Contribution ofAmerican journal of respiratory and critical care medicine · 2023Review
- An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations.NPJ genomic medicine · 2023Article
- Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH.The European respiratory journal · 2023Article
- A rare homozygous missense GDF2 (BMP9) mutation causing PAH in siblings: Does BMP10 status contribute?American journal of medical genetics. Part A · 2023Article
- Hereditary pulmonary arterial hypertension burden in pediatrics: A single referral center experience.Frontiers in pediatrics · 2023Article
- First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease.American journal of respiratory and critical care medicine · 2022Article
- Biallelic variants ofJournal of medical genetics · 2022Article
- Molecular genetics of pulmonary hypertension in children.Current opinion in genetics & development · 2022Review
- New Mutations and Pathogenesis of Pulmonary Hypertension: Progress and Puzzles in Disease Pathogenesis.Circulation research · 2022Review
- Channelopathy Genes in Pulmonary Arterial Hypertension.Biomolecules · 2022Review
- An adult case of NOTCH3 mutation in pulmonary artery hypertension.Pulmonary circulation · 2022Article
- The horizon of pediatric cardiac critical care.Frontiers in pediatrics · 2022Review
- Genetics dictating therapeutic decisions in pediatric pulmonary hypertension? A case report suggesting we are getting closer.Pulmonary circulation · 2022Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Pulmonary arterial hypertension (PAH) is a rare disease with high mortality despite recent therapeutic advances. The disease is caused by both genetic and environmental factors and likely gene-environment interactions. While PAH can manifest across the lifespan, pediatric-onset disease is particularly challenging because it is frequently associated with a more severe clinical course and comorbidities including lung/heart developmental anomalies. In light of these differences, it is perhaps not surprising that emerging data from genetic studies of pediatric-onset PAH indicate that the genetic basis is different than that of adults. There is a greater genetic burden in children, with rare genetic factors contributing to ~42% of pediatric-onset PAH compared to ~12.5% of adult-onset PAH. De novo variants are frequently associated with PAH in children and contribute to at least 15% of all pediatric cases. The standard of medical care for pediatric PAH patients is based on extrapolations from adult data. However, increased etiologic heterogeneity, poorer prognosis, and increased genetic burden for pediatric-onset PAH calls for a dedicated pediatric research agenda to improve molecular diagnosis and clinical management. A genomics-first approach will improve the understanding of pediatric PAH and how it is related to other rare pediatric genetic disorders.
Indexed as
Identifiers
What Socratic holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.